FHIR © HL7.org | Server Home | FHIR Server FHIR Server 3.7.10 | FHIR Version n/a User: [n/a]

9527009: tetrasomie 12p (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Tetrasomy 12p syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Tetrasomy 12p syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Tetrasomy 12p syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Tetrasomy 12p syndrome (disorder)

\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Tetrasomy 12p syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 12\Tetrasomy 12p syndrome (disorder)
\Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 12\Tetrasomy 12p syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Tetrasomy 12p syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Tetrasomy 12p syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Tetrasomy 12p syndrome (disorder)	Is a	Anomaly of chromosome pair 12	true	Inferred relationship	Some
Tetrasomy 12p syndrome (disorder)	Finding site	Chromosome pair 12	false	Inferred relationship	Some	1
Tetrasomy 12p syndrome (disorder)	Associated morphology	Tetrasomy	true	Inferred relationship	Some	2
Tetrasomy 12p syndrome (disorder)	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Tetrasomy 12p syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Tetrasomy 12p syndrome (disorder)	Finding site	Sex chromosome	false	Inferred relationship	Some
Tetrasomy 12p syndrome (disorder)	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Tetrasomy 12p syndrome (disorder)	Finding site	Chromosome pair 12	false	Inferred relationship	Some	1
Tetrasomy 12p syndrome (disorder)	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some
Tetrasomy 12p syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Tetrasomy 12p syndrome (disorder)	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Some	1
Tetrasomy 12p syndrome (disorder)	Finding site	Chromosome pair 12	true	Inferred relationship	Some	1
Tetrasomy 12p syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Tetrasomy 12p syndrome (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Tetrasomy 12p syndrome (disorder)	Associated morphology	Tetrasomy	true	Inferred relationship	Some	1
Tetrasomy 12p syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Tetrasomy 12p syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Tetrasomy 12p syndrome (disorder)	Finding site	Short arm of chromosome	true	Inferred relationship	Some	2
Tetrasomy 12p syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Tetrasomy 12p syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	3
Tetrasomy 12p syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	3
Tetrasomy 12p syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	4
Tetrasomy 12p syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
16673017	Killian-Teschler-Nicola syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
16674011	Pallister mosaic syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3010792013	Pallister-Killian syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4589822012	Isochromosome 12p syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4589823019	Tetrasomy 12p syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4589824013	Tetrasomy 12p syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
10258261000146119	tetrasomie 12p (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10258271000146113	tetrasomie 12p	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10258281000146110	syndroom van Pallister-Killian	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)